Hypophosphatasia
Conditions
Interventions
1. BM harvest 1)Agreement about Harvesting BM 2)Harvest volume
100-120ml 3)Anesthetic protocol
discuss by donor 2.BMT and MSCT First, we perform allogeneic BMT, and then allogeneic MSCT from same BM donor. Only MSCT is repeatedly performed if the patient deteriorates symptoms after BMT and MS
Sponsors
Shimane University School of Medicine
National Institute of Advanced Industrial Science and Technology
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1. Criteria for patient (severe-type HPP) inclusion 1)Age at onset is less than 6-month old 2)ALP activity less than the normal range 3)Bone symptoms including hypomineralization, fracture, long-bone deformity 4)Respiratory impairment 5)ALPL mutations bringing down low ALP activity 6)Reduced activity of bone formation in MSCs 2.Criteria for BM donor We need to select BM donor because this clinical trial uses BM and BM-derived MSC. Criteria for BM donor are as follows; 1)Second-degree family of the patient 2)No symptom of hypomineralization 3)Normal activity of ALP 4)ALPL gene -Wild type -ALPL mutations with normal activity of ALP 5)HLA -Identical donor -If HLA is mismatched, severe treatment-related complication and graft failure are less likely to occur. 6)Negative infections including HIV, HBV, HCV, and HTLV1 7)Age preference -Adult -If a child becomes a BM donor, we must confirm the following. #Adult-donor candidates have bone symptoms with ALPL mutations and are HLA mismatched donors from who the patient is likely to develop severe complications such as graft failure or GVHD. #Minor human rights #Minor informed consent #Deliberation in a local ethical committee #Explanation from doctor, medical social worker, and transplantation coordinator
Exclusion criteria
Exclusion criteria: 1. Objective Patients with non-severe HPP Patients wothuout inclusion criteria 2. BM donor Patients wothuout inclusion criteria
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| rescuing the patients with severe hypophospatasia | — |
Secondary
| Measure | Time frame |
|---|---|
| Height, Weight, alkaline phosphatase(ALP), bone-type ALP, Ca, P, substrates of ALP(phosphoethanolamine, pyridoxal 5-phosphate), Neutrohpil ALP score, X-ray of bone and chest, bone density, ability of bone formation | — |
Countries
Japan
Contacts
Public ContactTakeshi Taketani
Shimane University Hospital Division of Blood Transfusion
Outcome results
None listed